Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The aim of this study was to explore the sites of metabolic changes with [(18)F]2-fluoro-2-desoxy-D-glucose (FDG) and positron emission tomography (PET) in patients with Creutzfeldt-Jakob disease and to correlate the findings with clinical symptoms. Static [(18)F]FDG-PET studies of eight patients with the diagnosis of confirmed or probable CJD were retrospectively analysed by two physicians from departments of nuclear medicine independently with a strong interrater agreement (kappa=0,98). The clinical data of the patients, based on a standardized evaluation by physicians from the German Creutzfeldt-Jakob disease surveillance study, was correlated with the PET findings. [(18)F]FDG-PET shows widespread hypometabolism in CJD. All patients had a reduction of cerebral glucose metabolism in at least one temporal or parietal region. Additionally in 7 of our own 8 cases and 3 of 4 cases from the literature the occipital lobe, the cerebellum or the basal ganglia were involved. These findings differ from typical patterns of hypometabolism in Alzheimer's disease and other neurodegenerative disorders. In two thirds of the cases the distribution was markedly asymmetric. Myoclonus was present in five out of our eight own cases. Our data suggest that myoclonus might correlate with metabolic impairment of contralateral parietal and temporal lobes. In three of four patients with visual symptoms FDG uptake was reduced in the visual cortex bilaterally. Typical hyperintensities on MRI were only found in two of the eight cases at the time of PET-studies. Our results demonstrate that [(18)F]FDG-PET appears to be a sensitive investigation in CJD and could be useful to differentiate CJD from other neurodegenerative disorders.
 ...
PMID:Positron emission tomography with [(18)F]FDG in the diagnosis of Creutzfeldt-Jakob disease (CJD). 1211 2

A patient with dura-associated Creutzfeldt-Jakob disease (D-CJD) which occurred about 15 years after a dura mater graft is reported in the present study. The prion protein gene analysis disclosed no mutation. The D-CJD was atypical in: (i), the long interval between the onset of ataxia and the occurrence of dementia; (ii), the presence of transient myoclonus; and (iii), the presence of florid plaques in the brain. The electron-microscopic findings showed bundles of amyloid filaments which radiated from the center of the plaques without degenerating neurites. This case of D-CJD may belong to a new subtype of D-CJD.
 ...
PMID:Creutzfeldt-Jakob disease with florid plaques after cadaveric dura mater graft. 1277 2

The present report concerns an autopsy case of CJD showing typical clinical features of CJD. The patient was a Japanese woman without hereditary burden or dementing disorder anamnesis who was 70-years-old at the time of death. She developed gait disturbance at age 68, followed by memory impairment, visual disturbance, and myoclonus. A neurological examination approximately 2 months after the disease onset revealed akinetic mutism, in addition to periodic synchronous discharges on electroencephalogram. Serial neuroradiological examinations disclosed progressive atrophy of the brain. She died of bronchopneumonia 25 months after the disease onset. The brain weighed 560 g (cerebrum 490 g, brainstem with cerebellum 70 g). Macroscopically, neuropathological examination showed prominent atrophy of the cerebrum, caudate nucleus, and cerebellum, in addition to necrosis of the cerebral white matter, compatible with panencephalopathic CJD. Histologically, there was neuronal loss with or without spongiform change in the cerebral cortex, parahippocampal gyrus, amygdala, striatum, pallidum, thalamus, pontine nucleus, and cerebellar granule cells, in addition to diffuse synaptic-type prion staining in the cerebrum and cerebellum. Furthermore, senile plaques, compatible with definite Consortium to establish a registry for Alzheimer's disease rank Alzheimer's disease, and neurofibrillary changes of the limbic system, consistent with stage IV of Braak's classification, were found. Based on these clinicopathological findings and a review of the published literature, it is concluded that there were two forms of coexistence of CJD and Alzheimer's disease in the same patient.
 ...
PMID:Coexistence of CJD and Alzheimer's disease: an autopsy case showing typical clinical features of CJD. 1506 72

A 9-year-old Japanese girl received a cadaveric dura mater graft during surgery following a head injury with brain contusion. She continued to do well, but when she became 19-years-old, she gradually showed a violent character and was treated in a psychiatric hospital. Another 6 years later, 200 months after the procedure, she developed a progressive gait ataxia, which subsequently led to her death within 10 months of onset. An autopsy showed she had CJD. This patient represents an atypical case of dura-associated CJD (dCJD) with unusual clinicopathological features including the late occurrence of myoclonus, an absence of periodic synchronous discharges in the electroencephalogram, and the presence of widespread florid plaques. However, our detection of an asymmetrical increase in the MRI-derived images of pulvinar nuclei has not been previously observed in other atypical cases of dCJD. Because atypical dCJD cases share several clinicopathological features with those of vCJD, and because asymmetrical hyperintense signals in the pulvinar have been observed in some neuropathologically confirmed vCJD cases, we had some difficulty in a differential diagnosis between atypical dCJD and vCJD. This is the first atypical dCJD case showing a pulvinar high signal compared with all other basal ganglia on MRI.
 ...
PMID:Increased asymmetric pulvinar magnetic resonance imaging signals in Creutzfeldt-Jakob disease with florid plaques following a cadaveric dura mater graft. 1652 84

Sporadic Creutzfeldt-Jakob disease (sCJD) does not always present with typical clinical signs, such as myoclonus in association with periodic sharp-wave complexes. We present a 67-year old female patient with initial falls and vertical gaze palsy, suggesting the diagnosis of Progressive Supranuclear Palsy (PSP). EEG and MRI were not contributory. Typical clinical and paraclinical CJD signs were only seen after 17 months. The diagnosis was confirmed by autopsy. - CJD can be a neurodegenerative chameleon. The present case adds to the scare literature of slowly evolving CJD mimicking Parkinsonism related to tauopathies.
 ...
PMID:Creutzfeldt-Jakob disease with slow progression. A mimickry of progressive supranuclear palsy. 1808 8

We present five cases of dura mater-associated Creutzfeldt-Jakob disease (dura-CJD) that were analyzed clinicopathologically and review previous reports. The average age at dura mater transplantation was 54.4 +/- 7.3 years, and the average age at CJD onset was 66.0 +/- 8.2 years, with an average latency period of 11.6 +/- 1.1 years. The average age at death was 67.6 +/- 8.7 years, with an average CJD disease duration of 16.8 +/- 10.4 months. Symptoms of CJD onset in four patients who received dura mater transplantation below the cerebellar tent reflected cerebellar or brainstem dysfunction, whereas symptoms of one patient who received transplantation above the cerebellar tent reflected cerebral cortical involvement. All patients showed rapidly progressive cognitive impairment, and both periodic sharp-wave complexes on electroencephalogram and myoclonus were observed in the early disease stage. Neuropathologic evaluation showed one case of subacute spongiform encephalopathy and four cases of panencephalopathic-type CJD. Widespread cerebral neocortical, subcortical gray matter and cerebellar cortical involvement were observed to varying degrees, and severity tended to be associated with CJD disease duration. There were no instances of kuru plaques or florid plaques. Prion protein (PrP) immunostaining showed widespread synaptic-type PrP deposition. No differences between our dura-CJD cases and typical cases of sporadic CJD were found with respect to clinicopathologic findings, except history of dura mater transplantation. Although a specific association between the dura mater graft site and neuropathologic observations was not evaluated in the present study, the initial symptoms appear to be closely related to the graft site, indicating a direct transmission of CJD from the graft site to the adjacent brain.
 ...
PMID:Clinicopathologic characteristics of five autopsied cases of dura mater-associated Creutzfeldt-Jakob disease. 1818 35

There have been identified 1051 cases of prion dsease in Japan since 1999 by the surveillance committee, of which idiopathic prion disease held 77.8%, hereditary 15.9% and infectious 6.6%. Idiopathic prion disease is sporadic Creutzfeldt-Jakob disease (sCJD) and most sCJD cases were classified into MM1 presenting with classical clinical features. MM2, MV2, VV1 and VV2 sCJD cases were rare and showed atypical features including prolonged course, lack of myoclonus and absence of PSD. In such occasions, high signal intensities on DW-MRI as well as increased 14-3-3 and tau proteins in CSF were very helpful. MM2 tharamic sCJD may lack all these laboratory findings but reduction of tharamic CBF in SPECT or PET would support the diagnosis. Hereditary prion disease are classified into 3 major phenotypes such as familial CJD, Gerstmann-Straeussler-Scheinker disease (GSS) mainly showing spinocerebellar ataxia, and fatal familial insomunia. While there have been known many mutations of prion protein gene, only V180I (fCJD), E200K (fCJD), M232R (fCJD) and P102L (GSS) mutations were common. Because most cases did not have family history, genetic test is mandatory in all the cases of prion disease including seemingly "sporadic" CJD. All the cases but 1 case of variant CJD were dura-grafted CJD in infectious prion disease.
 ...
PMID:[Prion disease--the present status and recent progress in Japan]. 1919 1

We assessed the prevalence of Wernicke encephalopathy (WE) in all 657 cases suspected of Creutzfeldt-Jakob (CJD) referred from 2001 to 2006 to the French Neuropathology Network of CJD. Clinical, biological and imaging data were reviewed when the diagnosis of WE was made at autopsy. No CJD was found in five cases suspected of sporadic CJD. In these five cases, myoclonus had been observed in four, CSF 14-3-3 protein in two. In 14 other cases, WE was combined with CJD, 13 of which were sporadic. These belonged mainly to the molecular variants of sporadic CJD associated with a long duration of disease. This stresses the necessity of remaining alert to the diagnosis of WE when CJD is suspected.
 ...
PMID:Wernicke encephalopathy and Creutzfeldt-Jakob disease. 1925 96

A 68-year-old man was admitted to our hospital in the mid-October of 2006 because of a one-month history of peculiar movements of the left hand, which had been preceded by one month by awkward motions in the left leg. Upon neurological examination, spontaneous involuntary movement of the left hand was found. His left hand with his index finger stretched moved toward his right side spontaneously. He could not control his left leg freely. Although he showed mild ataxia in his left hand, there was no weakness, no dystonia, and no apraxia. No sensory abnormality was detected except for mild deep-sensation impairment in his left foot. The results of magnetic resonance imaging (MRI) including diffusion-weighted imaging (DWI) were normal; however, single-photon emission computed tomography (SPECT) showed hypoperfusion in the right hemisphere. At the time of admission, although a clinical diagnosis could not be made, we considered that the involuntary movements of his left hand were consistent with alien hand sign (AHS). Two and a half months after its onset, with the development of rapidly progressive dementia and generalized myoclonus, AHS gradually disappeared. Three months after the AHS onset, MRI with DWI showed restricted diffusion within the cortex involving the cingulated gyrus and bilateral temporal lobes, which was more prominent on the right than on the left side. Four months after the AHS onset, 14-3-3 protein level of the cerebrospinal fluid was elevated, and EEG recordings showed diffuse slowing of basic activity with periodic complexes. The patient was clinically diagnosed as having CJD. The patient died of pneumonia four and a half months after the AHS onset. AHS has rarely been reported in patients with CJD. Our case illustrates the importance of considering CJD in the differential diagnosis, if the patient showed AHS, even with normal MRI findings.
 ...
PMID:[Alien hand sign observed at the initial stage of a case of Creutzfeldt-Jakob disease]. 1934 76

In this study, we describe the clinicopathologic findings in a 68-year-old man with panencephalopathic-type CJD with a substitution from methionine to arginine at codon 232 (M232R) in the prion protein (PrP) gene and type 1 PrP. Initial symptoms of the patient were a rapidly progressive memory disturbance and disorientation. The patient showed myoclonus and periodic sharp-wave complexes on electroencephalogram in the early stages of disease. Diffusion-weighted MRI along with the presence of both neuron-specific enolase and 14-3-3 protein in the CSF showed similarities to classic-type sporadic CJD. The patient reached the akinetic mutism state 2 months following the onset of symptoms and died after 13 months. Neuropathologic examination revealed panencephalopathic-type CJD pathology including widespread neuron loss with severe hypertrophic astrocytosis and status spongiosus in the cerebral gray matter, particularly in the neocortex. Cerebral white matter and the cerebellum also showed severe involvement. Immunohistochemical staining for PrP showed diffuse gray matter staining, indicating synaptic-type PrP deposition without plaque-type. Two different clinical phenotypes of M232R CJD were recognized despite the presence of the same PrP genotype, and the present case is speculated to correspond to the rapid-type.
 ...
PMID:An autopsied case of panencephalopathic-type Creutzfeldt-Jakob disease with mutation in the prion protein gene at codon 232 and type 1 prion protein. 1942 33


<< Previous 1 2 3 4 Next >>